title: Thrombus obstructing the right ventricle outflow tract in a neonate with methylenetetrahydrofolate reductase 677TT genotype.
abstract: At her first day of life, a neonate presented with severe cyanosis and a mass obstructing the right ventricle outflow tract. Prostagladin E1 was necessary to provide pulmonary blood flow. The mass was removed using extracorporeal bypass surgery; the right ventricle was dilated, and the pulmonary valve leaflets were damaged. Sternal closure was delayed because of bleeding and poor cardiac performance. Histology demonstrated that the mass was a mixed thrombus. Investigation revealed homozygous 677TT genotype of the methylenetetrahydrofolate reductase. In conclusion, a life-threatening thrombotic event such as an intracardiac thrombus obstructing the right ventricle outflow tract can occur in a neonatal age. Since the event can be a result of a combination of acquired and congenital thrombogenic risk factors, an extensive screening including DNA-based mutation analysis should be performed.
authors.affiliation: Pediatric Cardiac Intensive Care Unit, National Institute of Cardiovascular Diseases, Bratislava, Slovakia. lkovacikova@yahoo.com
authors.forename: Lubica
authors.initials: L
authors.lastname: Kovacikova
authors.forename: Peter
authors.initials: P
authors.lastname: Skrak
authors.forename: Martin
authors.initials: M
authors.lastname: Zahorec
mesh_terms: D003328:Coronary Thrombosis / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006352:Heart Ventricles; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009154:Mutation; D014694:Ventricular Outflow Obstruction / Q000235:genetics*
chemical_list: D042965:Methylenetetrahydrofolate Reductase (NADPH2)